A Mom Fighting for Her Boy – Latest Update on Reece Trumpelmann – Gorlin Syndrome
Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a condition that effects many areas of the body and increases the risk of developing various cancerous and non cancerous tumors.
Gorlin syndrome is caused by the loss of functions due to mutations in the tumor suppressor gene Patch1, which encodes the sonic hedgehog pathway. It is an autosomal dominant inherited disorder.
You get different levels of this syndrome, but unfortunately Reece has been hit hard with most of the criteria.
Currently, some of his symptoms are:
- Multiple odontogenic tumors in his jaw which is attacking him constantly. He has had over 40 removed and lost 16 teeth. He has had multiple bone grafts as well.
- Multiple basal cell carcinomas
- Extensive Calcification of the flax celebri
- Bifid rib
- Major sinus issues
- Deviated Septum
- Endocrine system problems
- Heart problems (fibroma)
- GERD stage 4
- Palmer and Planter pits
His current specialists include:
As you can see, it`s a lot because its a multi system disease. Reece is on a top medical aid but unfortunately we have huge co-payments and bills with regards to all his treatment and needs. We take it one day at a time with this kiddo, because today he can be great but tomorrow can be a different story.
Reece has a chronic illness and it`s very rare. We are struggling to keep on top of it because of all his symptoms as well as the financial strain. However, I will never ever give up fighting for this warrior. He has been to hell and back. He has had more operations than I can remember since he was diagnosed in Feb 2016.
This syndrome is extremely rare and because of that, we often find ourselves having to educate Doctors. We have finally after a long road found a magnificent team that truly has Reece in their best interests. So I am so grateful.
Reece needs so many things and tests and procedures done at the moment, and because of the finances, I just cannot do it. Our medical aid runs out in February already and as you can imagine, the bills are huge. Some things are not covered at all.
We have a few things we need to do asap.
Cone beam scan
Blood to the UK – this is so important to be able to go forward with the chemo!
Implants – He currently has 3 that need teeth. He has 2 already. This is vital for Reece to strengthen his jaw as well as for allowing him to eat.
Surgery. Deviated Septum – it`s causing him huge pain.
And new implants.
And then of course the continuous doctors` appointments. This never ends.
Reece as a person
Reece is a 14 year old boy who has been through more than most of us adults can handle. And he does this with the courage of a lion. He is truly a fighter. And such a beautiful soul.
All I want for Reece is happiness and comfort. I want to try elevate his pain and discomfort. I am just a mom fighting for my boy.
Thank you for reading this and if you feel in your heart please share his story. We truly need help in any way or form.
God bless you all.
Fundraising for Reece
The Blessed in Blue Bracelets for Reece cost R30 each; consisting of navy coloured wooden beads – with an Anchor or Cross charm – or as a plain bracelet without a charm. To place an order, please contact the agent in your area or shop online. Alternatively, please consider a donation. Any and all donations welcome.